ClinVar

NM_007241.4(SNF8):c.629G>A (p.Arg210Gln)

Gene:

SNF8:SNF8 subunit of ESCRT-II [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.32

Genomic location:

• Chr17: 48931653 (on Assembly GRCh38)
• Chr17: 47009015 (on Assembly GRCh37)

Preferred name:

NM_007241.4(SNF8):c.629G>A (p.Arg210Gln)

HGVS:

• NC_000017.11:g.48931653C>T
• NM_001317192.2:c.626G>A
• NM_001317193.2:c.578G>A
• NM_001317194.2:c.317G>A
• NM_007241.4:c.629G>AMANE SELECT
• NP_001304121.1:p.Arg209Gln
• NP_001304122.1:p.Arg193Gln
• NP_001304123.1:p.Arg106Gln
• NP_009172.2:p.Arg210Gln
• NC_000017.10:g.47009015C>T
• NM_001317193.1:c.578G>A
• NR_133679.2:n.776G>A

This HGVS expression did not pass validation

Protein change:

R106Q

Links:

dbSNP: rs775611332

NCBI 1000 Genomes Browser:

rs775611332

Molecular consequence:

• NM_001317192.2:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317193.2:c.578G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317194.2:c.317G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007241.4:c.629G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_133679.2:n.776G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]